Human disease is caused by multiple factors, but a substantial portion of the risk for all disease is inherited. The challenge human genetics has faced over the past half century has been to identify these risk genes in the absence of basic knowledge of the human genome sequence. The recently completed Human Genome Project provided our complete genetic blueprint, and led to an explosion of information concerning gene variants that confer risk toward disease. However, despite these scientific advances, the ability to identify these disease risk alleles has far outpaced our understanding of their mechanism of action. Limited mechanistic understanding is reflected in a lack of translation of these genetic discoveries into novel therapies.

The Division of Human Genetics, founded in March 2013, represents a new unit within the Department of Molecular Genetics and Microbiology, that serves as a focal point for human genetics research in our department, and more broadly across the entire Duke campus. Our mission is to bridge the gaps between risk variant discoveries and molecular mechanisms, and between mechanistic understanding and novel therapeutics for human (genetic) disease. We seek to be inclusive of the various researchers across our campus that engage in a broad spectrum of research topics covering all aspects of human genetics.

Our mission is to bridge the gaps between risk variant discoveries and molecular mechanisms, and between mechanistic understanding and novel therapeutics for human (genetic) disease.